Anthony J. Richtsmeier, Jr., MD, Behavioral Pediatrician
Spectrum Health Medical Group
Helen DeVos Children’s Hospital

You may have seen the recent study in Pediatrics about the risk of recurrence for autism spectrum disorder (ASD) in families who already have a child with ASD. To the surprise of many, the recurrence rate in this relatively large sample (664 infants) was 18.7%. This is much higher than the 3% to 10% suggested by smaller studies and may even be an underestimation because the study evaluated children at 36 months; higher functioning ASD may not manifest obvious symptoms so early.

The early identification of children with an autism spectrum disorder is not always easy. Problems with social and emotional development, important in suspecting ASD, are generally less obvious than other developmental differences.   

This study reminds us of the importance of being sensitive to developmental differences  at every visit, and of screening at 18 and 24 months with the Modified Checklist for Autism in Toddlers (M-CHAT), as recommended by the American Academy of Pediatrics. You can download the M-CHAT free here.

Interestingly, an article published in the July issue of Pediatrics questioned the value of such routine screening, concluding that there may not be enough sound evidence to support its implementation. I would take issue with the authors of that article. We are learning that children with autism who receive specific early intervention show more improvement than children who do not—at least in clinical studies. One problem is that in real life, “early intervention” may merely consist of weekly appointments with speech and/or occupational therapy. These may be helpful but much more is likely needed.

There is tremendous variation among children with symptoms along the autism continuum, thus generalizing about treatment is difficult.  The vast majority of families I see report benefits from available therapies and behaviorally based treatments. But I also see children who receive a lot of therapy demonstrate minimal improvement, while other children improve with minimal formal intervention. This may be the child’s particular therapeutic and/or environmental influences, or it may be the way the brain is programmed – or both. More research is needed to understand how to help each child optimally develop.

I would submit that the burden of proof against routine screening lies with those who say there is more potential harm than benefit. Data are limited, but the risk of ignoring delays and allowing families to struggle relatively unsupported and children’s autistic features to be ingrained seems higher to me than any risks that may be associated with screening. If any problems are identified, pediatricians can provide families with basic information about the findings and potential implications; share information regarding the child’s strengths as well as challenges; express commitment to help families navigate through choices; refer to Early On for evaluation and intervention; offer general behavioral recommendations; and share information about specialty referral and resource opportunities.

This brings me back to the sibling study. If you hear from parents concerned about having another child with ASD, remind them that even while the study showed about a 19% risk, that is a group statistic and individual risks could vary. It also means that in the aggregate there was more than 80% likelihood that the subsequent siblings studied did not have ASD. Even if a future sibling is affected, there may be a different severity.

There are many different findings and conditions that can be associated with autism. Children with ASD should receive thorough pediatric evaluation for abnormal findings and possible conditions that can be associated with ASD, have those issues pursued diagnostically and be referred as indicated. Chromosomal microarray has replaced high-resolution chromosome analysis as test of choice in the evaluation of autism.  An underlying abnormality is more likely to be uncovered in ASD children with intellectual disabilities and/or abnormal physical issues than in those without.  In most cases of autism today, a cause cannot be found.

When it comes to ASD, I believe that you, as pediatricians, should promote a realistic element of hope in these families for several reasons:  A positive outlook can help promote a more positive outcome; some children develop very unique abilities ; and, most importantly, developmental gains are common, with some being dramatic.

Anthony J. Richtsmeier, Jr., MD, is a behavioral pediatrician with the Spectrum Health Medical Group who practices at Helen DeVos Children’s Hospital in Grand Rapids, Michigan.